ODCs

Cytoscape Web

Click node...

Alpha-thalassemia - myelodysplastic syndrome

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

Alpha-thalassemia - myelodysplastic syndrome

Monomelic amyotrophy

ATRX	(UniProt - OMIM)		C5ORF42	(UniProt - OMIM)
			KIAA1377	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ATRX	(0.63)	KIAA1377

Citations in the biomedical literature:

Alpha-thalassemia - myelodysplastic syndrome		Monomelic amyotrophy
	Synonym(s): - ATMDS - Acquired HbH disease - Acquired hemoglobin H disease		Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb

	Classification (Orphanet): - Rare genetic disease - Rare hematologic disease		Classification (Orphanet): (no data available)

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538253

Alpha-thalassemia - myelodysplastic syndrome		Monomelic amyotrophy
	Very frequent - Asthenia / fatigue / weakness - Microcytic anemia - Myelodysplastic syndrome - Polynuclear cells / neutrophils anomalies / neutropenia - Thrombocytopenia / thrombopenia Frequent - Bruisability - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Acute leukemia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Neoplasms / tumors - Splenomegaly		Very frequent - Abnormal EMG / electromyogram / electropmyography - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor